Canonical Allele Identifier: CA2628141215

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600481C>T , CM000677.2:g.43600481C>T GRCh38
NC_000015.9:g.43892679C>T , CM000677.1:g.43892679C>T GRCh37
NC_000015.8:g.41679971C>T NCBI36
NG_011636.1:g.23320G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4993+53G>A (STRC) MANE Select ENSP00000401513.2:n.4993+53G>A
ENST00000411560.1:n.142+948C>T (CKMT1B)
ENST00000428650.5:c.*2026+53G>A (STRC) ENSP00000415991.1:n.*2026+53G>A
ENST00000440125.5:c.*2785+53G>A (STRC) ENSP00000394866.1:n.*2785+53G>A
ENST00000448437.6:n.2113+53G>A (STRC)
ENST00000450892.6:c.4993+53G>A (STRC) ENSP00000401513.2:n.4993+53G>A
ENST00000471703.5:n.2947+53G>A (STRC)
ENST00000485556.5:n.3848+53G>A (STRC)
ENST00000541030.5:c.2674+53G>A (STRC) ENSP00000440413.1:n.2674+53G>A
NM_153700.2:c.4993+53G>A (STRC) MANE Select NP_714544.1:n.4993+53G>A
XM_011521277.1:c.5482+53G>A (STRC) XP_011519579.1:n.5482+53G>A
XM_011521278.1:c.5098+53G>A (STRC) XP_011519580.1:n.5098+53G>A
XM_011521279.1:c.5098+53G>A (STRC) XP_011519581.1:n.5098+53G>A